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1.
Epilepsy Res ; 204: 107385, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38851173

RESUMO

PURPOSE: Long-term ambulatory EEG recordings can improve the monitoring of absence epilepsy in children, but signal quality and increased review workload are a concern. We evaluated the feasibility of around-the-ears EEG arrays (cEEGrids) to capture 3-Hz short-lasting and ictal spike-and-wave discharges and assessed the performance of automated detection software in cEEGrids data. We compared patterns of bilateral synchronisation between short-lasting and ictal spike-and-wave discharges. METHODS: We recruited children with suspected generalised epilepsy undergoing routine video-EEG monitoring and performed simultaneous cEEGrids recordings. We used ASSYST software to detect short-lasting 3-Hz spike-and-wave discharges (1-3 s) and ictal spike-and-wave discharges in the cEEGrids data. We assessed data quality and sensitivity of cEEGrids for spike-and-wave discharges in routine EEG. We determined the sensitivity and false detection rate for automated spike-and-wave discharge detection in cEEGrids data. We compared bihemispheric synchrony across the onset of short-lasting and ictal spike-and-wave discharges using the mean phase coherence in the 2-4 Hz frequency band. RESULTS: We included nine children with absence epilepsy (median age = 11 y, range 8-15 y, nine females) and recorded 4 h and 27 min of cEEGrids data. The recordings from seven participants were suitable for quantitative analysis, containing 82 spike-and-wave discharges. The cEEGrids captured 58 % of all spike-and-wave discharges (median individual sensitivity: 100 %, range: 47-100 %). ASSYST detected 82 % of all spike-and-wave discharges (median: 100 %, range: 41-100 %) with a false detection rate of 48/h (median: 6/h, range: 0-154/h). The mean phase coherence significantly increased during short-lasting and ictal spike-and-wave discharges in the 500-ms pre-onset to 1-s post-onset interval. CONCLUSIONS: cEEGrids are of variable quality for monitoring spike-and-wave discharges in children with absence epilepsy. ASSYST could facilitate the detection of short-lasting and ictal spike-and-wave discharges with clear periodic structures but with low specificity. A similar course of bihemispheric synchrony between short-lasting and ictal spike-and-wave discharges indicates that cortico-thalamic driving may be relevant for both types of spike-and-wave discharges.


Assuntos
Eletroencefalografia , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/diagnóstico , Criança , Eletroencefalografia/métodos , Feminino , Masculino , Adolescente
3.
Neurol Res ; 46(7): 626-633, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38643974

RESUMO

BACKGROUND AND PURPOSE: Childhood absence epilepsy (CAE) has a typical electroencephalography (EEG) pattern of generalized 3 Hz spike and wave discharges (SWD). Focal interictal discharges were also documented in a small number of documents. The aim was to investigate the amplitudes of interictal 3 Hz SWD within the 1st second in drug-naïve CAE patients. In this way, areas with maximal electronegativity at the beginning of clinically generalized discharges will be documented. METHODS: The EEG records of children with drug-naïve CAE were evaluated retrospectively by two child neurologists first for 3 Hz SWD. Then, a machine-learning model evaluated the amplitudes of 3 Hz in the 1st second of SWD. Maximum electronegativity areas were documented and classified as focal, bilateral, and generalized. RESULTS: One hundred and twelve 3 Hz SWD were evaluated in 11 patients. Among discharges within the 1st second, maximum electronegativity areas were documented as focal for 44 (39.2%), bilateral for 8 (7.1%), generalized for 60 (53.5%). Among focal electronegativity areas, mostly right central, left occipital and midline parietal areas were documented in 12 (10.7%), 7 (6.2%), and 6 (5.3%), respectively. Eight (7.1%) of the maximum electronegativity areas were detected bilaterally, of which 7 (6.2%) originated from the frontopolar areas. CONCLUSIONS: Focal maximal electronegativity areas were frequently observed in drug-naïve CAE patients, comprising approximately half of non-generalized discharges. Focal discharges might be misleading in diagnosis. Focal areas within the brain may be responsible for and contribute to absence seizures that appear bilaterally symmetrical and generalized clinically. Although its clinical implication is unknown, this warrants further study.


Assuntos
Eletroencefalografia , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/diagnóstico , Eletroencefalografia/métodos , Criança , Masculino , Feminino , Estudos Retrospectivos , Pré-Escolar , Adolescente , Encéfalo/fisiopatologia , Aprendizado de Máquina
5.
Clin Neurophysiol ; 163: 267-279, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38644110

RESUMO

OBJECTIVE: This study aims to detect the seizure onset, in childhood absence epilepsy, as early as possible. Indeed, interfering with absence seizures with sensory simulation has been shown to be possible on the condition that the stimulation occurs soon enough after the seizure onset. METHODS: We present four variations (two supervised, two unsupervised) of an algorithm designed to detect the onset of absence seizures from 4 scalp electrodes, and compare their performance with that of a state-of-the-art algorithm. We exploit the characteristic shape of spike-wave discharges to detect the seizure onset. Their performance is assessed on clinical electroencephalograms from 63 patients with confirmed childhood absence epilepsy. RESULTS: The proposed approaches succeed in early detection of the seizure onset, contrary to the classical detection algorithm. Indeed, the results clearly show the superiority of the proposed methods for small delays of detection, under 750 ms from the onset. CONCLUSION: The performance of the proposed unsupervised methods is equivalent to that of the supervised ones. The use of only four electrodes makes the pipeline suitable to be embedded in a wearable device. SIGNIFICANCE: The proposed pipelines perform early detection of absence seizures, which constitutes a prerequisite for a closed-loop system.


Assuntos
Eletroencefalografia , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/diagnóstico , Eletroencefalografia/métodos , Criança , Feminino , Masculino , Convulsões/fisiopatologia , Convulsões/diagnóstico , Algoritmos , Pré-Escolar , Adolescente
6.
Rev Neurol (Paris) ; 180(4): 290-297, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38508955

RESUMO

The 2017 International League Against Epilepsy (ILAE) classification suggested that the term "genetic generalized epilepsies" (GGEs) should be used for the broad group of epilepsies with so-called "generalized" seizure types and "generalized" spike-wave activity on EEG, based on a presumed genetic etiology. Within this framework, idiopathic generalized epilepsies (IGEs) are described as a subset of GGEs and include only four epileptic syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. The recent 2022 ILAE definition of IGEs is based on the current state of knowledge and reflects a community consensus and is designed to evolve as knowledge advances. The term "frontiers of IGEs" refers to the actual limits of our understanding of these four syndromes. Indeed, among patients presenting with a syndrome compatible with the 2022 definition of IGEs, we still observe a significant proportion of patients presenting with specific clinical features, refractory seizures, or drug-resistant epilepsies. This leads to the discussion of the boundaries of IGEs and GGEs, or what is accepted within a clinical spectrum of a definite IGE. Here, we discuss several entities that have been described in the literature for many years and that may either constitute rare features of IGEs or a distinct differential diagnosis. Their recognition by clinicians may allow a more individualized approach and improve the management of patients presenting with such entities.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia Generalizada , Humanos , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatologia , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/etiologia , Eletroencefalografia , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/tratamento farmacológico
7.
Clin EEG Neurosci ; 55(5): 581-585, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38298021

RESUMO

The accuracy of headband electroencephalogram (EEG) was compared to traditional EEG in pediatric patients with absence epilepsy. This study enrolled 10 patients with previously diagnosed absence epilepsy and examined the concordance of headband EEG and traditional EEG in the follow-up EEG of treated absence epilepsy. The study found a concordant result in 80% of cases providing a signal that absence epilepsy is an effective target for headband EEG. The study showcases a need for further research in headband EEG technology and continued improvements in technology.


Assuntos
Eletroencefalografia , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/diagnóstico , Eletroencefalografia/métodos , Criança , Feminino , Masculino , Adolescente , Pré-Escolar
8.
Rev Neurol (Paris) ; 180(4): 256-270, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38413268

RESUMO

The persistence of typical absence seizures (AS) in adolescence and adulthood may reduce the quality of life of patients with genetic generalized epilepsies (GGEs). The prevalence of drug resistant AS is probably underestimated in this patient population, and treatment options are relatively scarce. Similarly, atypical absence seizures in developmental and epileptic encephalopathies (DEEs) may be unrecognized, and often persist into adulthood despite improvement of more severe seizures. These two seemingly distant conditions, represented by typical AS in GGE and atypical AS in DEE, share at least partially overlapping pathophysiological and genetic mechanisms, which may be the target of drug and neurostimulation therapies. In addition, some patients with drug-resistant typical AS may present electroclinical features that lie in between the two extremes represented by these generalized forms of epilepsy.


Assuntos
Epilepsia Resistente a Medicamentos , Eletroencefalografia , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/terapia , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/epidemiologia , Epilepsia Tipo Ausência/diagnóstico , Adulto , Adolescente , Epilepsia Resistente a Medicamentos/terapia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/epidemiologia , Epilepsia Resistente a Medicamentos/diagnóstico , Anticonvulsivantes/uso terapêutico , Convulsões/terapia , Convulsões/epidemiologia , Convulsões/diagnóstico , Convulsões/etiologia , Adulto Jovem
9.
Dev Neuropsychol ; 49(1): 25-38, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38251640

RESUMO

We evaluated clinical parameters distinguishing cognitive disengagement syndrome (CDS) and childhood absence epilepsy (CAE). 40 children with CDS, 27 with CAE, and 41 controls aged 7-12 were compared regarding sleep problems, CDS, and ADHD symptoms. CDS-sluggishness symptoms, but not CDS-daydreaming symptoms, were significantly higher in CDS group than CAE group. CDS scale provided a weak discrimination value between CDS and CAE. Sleep problems and ADHD symptoms were similar between the two clinical entities. These findings highlight that CDS and CAE might have overlapping symptoms. 'Daydreaming' symptoms but not 'sluggishness' symptoms seem to be main overlapping manifestations between CDS and CAE.


Assuntos
Epilepsia Tipo Ausência , Transtornos do Sono-Vigília , Humanos , Criança , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/psicologia , Cognição
10.
Epileptic Disord ; 26(2): 188-198, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38279944

RESUMO

OBJECTIVE: To develop and validate a method for long-term (24-h) objective quantification of absence seizures in the EEG of patients with childhood absence epilepsy (CAE) in their real home environment using a wearable device (waEEG), comparing automatic detection methods with auditory recognition after seizure sonification. METHODS: The waEEG recording was acquired with two scalp electrodes. Automatic analysis was performed using previously validated software (Persyst® 14) and then fully reviewed by an experienced clinical neurophysiologist. The EEG data were converted into an audio file in waveform format with a 60-fold time compression factor. The sonified EEG was listened to by three inexperienced observers and the number of seizures and the processing time required for each data set were recorded blind to other data. Quantification of seizures from the patient diary was also assessed. RESULTS: Eleven waEEG recordings from seven CAE patients with an average age of 8.18 ± 1.60 years were included. No differences in the number of seizures were found between the recordings using automated methods and expert audio assessment, with significant correlations between methods (ρ > .89, p < .001) and between observers (ρ > .96, p < .001). For the entire data set, the audio assessment yielded a sensitivity of .830 and a precision of .841, resulting in an F1 score of .835. SIGNIFICANCE: Auditory waEEG seizure detection by lay medical personnel provided similar accuracy to post-processed automatic detection by an experienced clinical neurophysiologist, but in a less time-consuming procedure and without the need for specialized resources. Sonification of long-term EEG recordings in CAE provides a user-friendly and cost-effective clinical workflow for quantifying seizures in clinical practice, minimizing human and technical constraints.


Assuntos
Epilepsia Tipo Ausência , Dispositivos Eletrônicos Vestíveis , Humanos , Criança , Eletroencefalografia/métodos , Convulsões/diagnóstico , Epilepsia Tipo Ausência/diagnóstico , Eletrodos
11.
Epilepsy Behav ; 151: 109647, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38232558

RESUMO

Childhood absence epilepsy (CAE) is a common type of idiopathic generalized epilepsy, manifesting as daily multiple absence seizures. Although seizures in most patients can be adequately controlled with first-line antiseizure medication (ASM), approximately 25 % of patients respond poorly to first-line ASM. In addition, an accurate method for predicting first-line medication responsiveness is lacking. We used the quantitative electroencephalogram (QEEG) features of patients with CAE along with machine learning to predict the therapeutic effects of valproic acid in this population. We enrolled 25 patients with CAE from multiple medical centers. Twelve patients who required additional medication for seizure control or who were shifted to another ASM and 13 patients who achieved seizure freedom with valproic acid within 6 months served as the nonresponder and responder groups. Using machine learning, we analyzed the interictal background EEG data without epileptiform discharge before ASM. The following features were analyzed: EEG frequency bands, Hjorth parameters, detrended fluctuation analysis, Higuchi fractal dimension, Lempel-Ziv complexity (LZC), Petrosian fractal dimension, and sample entropy (SE). We applied leave-one-out cross-validation with support vector machine, K-nearest neighbor (KNN), random forest, decision tree, Ada boost, and extreme gradient boosting, and we tested the performance of these models. The responders had significantly higher alpha band power and lower delta band power than the nonresponders. The Hjorth mobility, LZC, and SE values in the temporal, parietal, and occipital lobes were higher in the responders than in the nonresponders. Hjorth complexity was higher in the nonresponders than in the responders in almost all the brain regions, except for the leads FP1 and FP2. Using KNN classification with theta band power in the temporal lobe yielded optimal performance, with sensitivity of 92.31 %, specificity of 76.92 %, accuracy of 84.62 %, and area under the curve of 88.46 %.We used various EEG features along with machine learning to accurately predict whether patients with CAE would respond to valproic acid. Our method could provide valuable assistance for pediatric neurologists in selecting suitable ASM.


Assuntos
Epilepsia Tipo Ausência , Criança , Humanos , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/tratamento farmacológico , Ácido Valproico/uso terapêutico , Convulsões/tratamento farmacológico , Eletroencefalografia/métodos , Aprendizado de Máquina
12.
Medicine (Baltimore) ; 102(45): e35601, 2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-37960785

RESUMO

RATIONALE: Phantom absences refer to mild and short-lasting absence seizures, which are usually accompanied by infrequent generalized tonic-clonic seizures and absence status. Generally, phantom absences do not impair the individual neurological functions. Herein, we report the case of a young woman with idiopathic generalized epilepsy, phantom absences, absence status, and generalized tonic-clonic seizures. PATIENT CONCERNS: A 31-year-old woman presented with a 16-year history of paroxysmal convulsions. DIAGNOSES: Electroencephalogram (EEG) showed recurrent universal and synchronized 3~4 Hz spike waves and spike-slow waves in the interictal phase with normal background activity. During the ictal phases, EEG revealed bursts of 3~4 Hz spike waves and spike-slow waves that were universal, synchronized, and symmetrical. Additionally, there was 1 seizure episode induced by a 3-Hz flash in the current case. Based on these findings, a diagnosis of idiopathic generalized epilepsy was made. INTERVENTIONS: The patient was treated with oral sodium valproate, and the epileptic seizures were controlled. OUTCOMES: The frequency of absence seizures was significantly reduced and there were no generalized tonic-clonic seizures. LESSONS: Idiopathic generalized epilepsy with phantom absences, absence status, and generalized tonic-clonic seizures is an extremely rare condition. EEG is the exclusive method for diagnosis. Antiepileptic drugs are effective for controlling epileptic seizures in this disease.


Assuntos
Epilepsia Tipo Ausência , Epilepsia Generalizada , Epilepsia Tônico-Clônica , Estado Epiléptico , Feminino , Humanos , Adulto , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/tratamento farmacológico , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Convulsões/etiologia , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/complicações , Estado Epiléptico/complicações , Ácido Valproico/uso terapêutico , Eletroencefalografia , Epilepsia Tônico-Clônica/diagnóstico , Epilepsia Tônico-Clônica/tratamento farmacológico
13.
Epilepsy Behav ; 148: 109440, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37748416

RESUMO

PURPOSE: Childhood absence epilepsy (CAE) is characterized by impaired consciousness and distinct electroencephalogram (EEG) patterns. However, interictal epileptiform discharges (IEDs) do not lead to noticeable symptoms. This study examines the disparity between ictal and interictal generalized spike-and-wave discharges (GSWDs) to determine the mechanisms behind CAE and consciousness. METHODS: We enrolled 24 patients with ictal and interictal GSWDs in the study. The magnetoencephalography (MEG) data were recorded before and during GSWDs at a sampling rate of 6000 Hz and analyzed across six frequency bands. The absolute and relative spectral power were estimated with the Minimum Norm Estimate (MNE) combined with the Welch technique. All the statistical analyses were performed using paired-sample tests. RESULTS: During GSWDs, the right lateral occipital cortex indicated a significant difference in the theta band (5-7 Hz) with stronger power (P = 0.027). The interictal group possessed stronger spectral power in the delta band (P < 0.01) and weaker power in the alpha band (P < 0.01) as early as 10 s before GSWDs in absolute and relative spectral power. Additionally, the ictal group revealed enhanced spectral power inside the occipital cortex in the alpha band and stronger spectral power in the right frontal regions within beta (15-29 Hz), gamma 1 (30-59 Hz), and gamma 2 (60-90 Hz) bands. CONCLUSIONS: GSWDs seem to change gradually, with local neural activity changing even 10 s before discharge. During GSWDs, visual afferent stimulus insensitivity could be related to the impaired response state in CAE. The inhibitory signal in the low-frequency band can shorten GSWD duration, thereby achieving seizure control through inhibitory effect strengthening.


Assuntos
Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/diagnóstico , Magnetoencefalografia , Encéfalo , Eletroencefalografia/métodos , Convulsões
14.
Epileptic Disord ; 25(3): 383-389, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37536979

RESUMO

INTRODUCTION: Pathogenic variants of the GABRG2 gene, encoding a GABAA receptor subunit, have been associated with various epileptic syndromes and drug-resistant epilepsy. Vinpocetine has been previously reported efficacious in a patient harboring a GABRB3 pathogenic variant, encoding another GABAA receptor subunit. CASE PRESENTATION: We describe a patient with GABRG2-related drug-resistant epilepsy who improved after vinpocetine treatment. An 8-year-old boy with a family history of epilepsy was diagnosed with early onset absence epilepsy at 6 months of age and was treated unsuccessfully with sodium valproate and ethosuximide. At 6 years of age, he developed generalized tonic-clonic seizures and increasing absences despite lamotrigine add-on as well as learning difficulties. Brain MRI was normal and video-EEG telemetry showed multiple myoclonic absences. An epilepsy gene panel analysis showed a GABRG2 pathogenic variant, c.254 T > A p.(Ile85Lys) (NM_198903.2), inherited from the proband's father. Seizures were resistant to several medications. After treatment with vinpocetine add-on, the patient showed a dramatic initial response, further reduction of seizures, and improvement of his cognitive functions. CONCLUSION: This case illustrates that vinpocetine could be considered in drug-resistant epilepsies related to GABRG2 in accordance with the principles of precision medicine.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia Tipo Ausência , Epilepsia Generalizada , Masculino , Humanos , Criança , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/genética , Epilepsia Tipo Ausência/diagnóstico , Medicina de Precisão , Receptores de GABA-A/genética , Anticonvulsivantes/uso terapêutico , Convulsões/tratamento farmacológico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/genética , Epilepsia Generalizada/diagnóstico
15.
J Child Neurol ; 38(8-9): 505-512, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37461321

RESUMO

Introduction: Absence seizures occur in various epilepsy syndromes, including childhood and juvenile absence epilepsy and juvenile myoclonic epilepsy. When children present with absence seizures at ages when syndromes overlap, initial syndrome designation is not always possible, making early prognostication challenging. For these children, the study objective is to determine clinical and initial electroencephalograph (EEG) findings to predict the development of generalized tonic-clonic seizures, which is a factor that affects outcome. Methods: Children with new-onset absence seizures between 8 and 11 years of age with at least 5 years of follow-up data were studied through the review of medical records and initial EEG tracings. Results: Ninety-eight patients were included in the study. The median age of absence seizure onset was 9 years (interquartile range [IQR] = 8.00, 10.00) and follow-up was 15 years (IQR = 13.00, 18.00). Forty-six percent developed generalized tonic-clonic seizures and 20% developed myoclonic seizures. On multiple regression analysis, a history of myoclonic seizures, anxiety, as well as bifrontal slowing and mild background slowing on initial EEG (P < .05) were associated with generalized tonic-clonic seizures. Although not statistically significant, a shorter duration of shortest EEG burst on baseline EEG was also associated with generalized tonic-clonic seizures. Conclusion: On initial EEG, bifrontal and background slowing and myoclonic seizures and anxiety are associated with developing generalized tonic-clonic seizures, which is of prognostic significance when early syndrome designation is difficult.


Assuntos
Epilepsias Mioclônicas , Epilepsia Tipo Ausência , Epilepsia Generalizada , Epilepsia Tônico-Clônica , Criança , Humanos , Pré-Escolar , Epilepsia Tipo Ausência/diagnóstico , Síndrome , Convulsões/diagnóstico , Convulsões/complicações , Epilepsias Mioclônicas/complicações , Prognóstico , Eletroencefalografia , Epilepsia Tônico-Clônica/complicações
16.
Seizure ; 110: 244-252, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37441906

RESUMO

PURPOSE: To compare electroencephalography (EEG) features of newly diagnosed drug-naive childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) patients and analyze their response to anti-seizure medications (ASMs). METHOD: EEG characteristics between CAE and JAE patients and responders and non-responders to ASM at baseline and 12 months were compared, and the changes from baseline were analysed. RESULTS: A total of 62 patients (32 CAE and 30 JAE) were included. Discharges in baseline awake and sleep EEGs and interictal and polyspike discharges in baseline sleep EEGs were more frequent in JAE patients. Although the median discharge densities (discharge containing seconds per minute) were similar in baseline awake and sleep EEGs between the groups, the median was higher in the JAE group at 12 months and decreased significantly in both groups at 12 months compared to the baseline values. Responses to initial ASMs were 94% and 77% in the CAE and JAE groups, respectively. In initial sleep EEGs of non-responders with JAE, focal onset generalized spike and slow wave discharges (GSWDs) were more frequent, and the median ictal and interictal discharge densities were higher. CONCLUSION: JAE patients had more frequent disorganized discharges at baseline in both awake and sleep EEGs and interictal and polyspike discharges in sleep EEGs than those of CAE patients. Improvement in EEG was more pronounced in CAE patients than in JAE patients. Focal-onset GSWDs and higher ictal and interictal discharge densities on baseline EEG were associated with a poor response to initial ASMs in JAE patients.


Assuntos
Epilepsia Tipo Ausência , Humanos , Criança , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/tratamento farmacológico , Vigília , Eletroencefalografia , Sono
17.
Epilepsy Behav ; 145: 109346, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37437391

RESUMO

BACKGROUND AND AIM: Reading-induced seizures are presumed to be rare phenomena attributed to an epilepsy syndrome not clearly belonging to either focal or generalized epilepsies. The aim of the article was to summarize knowledge and recent developments in the field of reading-induced seizures by reviewing all cases for which data were reported within the last three decades. METHODS: A scoping systematic review of demographic, clinical, electroencephalography (EEG) and imaging data of cases with reading-induced seizures reported in PubMed and Web of Science between 1991-01-01 and 2022-08-21 and a meta-analysis of the findings. RESULTS: The review included 101 case reports of epilepsy with reading-induced seizures (EwRIS) from 42 articles. The phenomenon was more prevalent among males (67, 66.3% vs. 34, 33.7%) with an average age of onset of 18.3 ± 7.9 years. When reported, 30.8% of patients had a family history of epilepsy. Orofacial reflex myocloni (ORM) were the most frequent manifestation (68, 67.3% cases), other presentations, mostly in addition to ORM, included visual, sensory or cognitive symptoms, non-orofacial myoclonic seizures, and absence seizures. Within the sample, 75 (74.3%) patients were identified as having primary reading epilepsy (PRE), 13 (12.9%) idiopathic generalised epilepsy (IGE) and 13 (12.9%) focal epilepsies. Advanced EEG and functional imaging data suggest that the basic mechanism of reading-induced seizures is probably similar despite different symptoms and consists of upregulation of the complex cerebral subsystem involved in reading. Ictogenesis and resulting symptomatology may then depend on predominant sensory or proprioceptive stimuli during reading. CONCLUSION: In most cases, reading-induced seizures were confirmed to belong to a particular epilepsy syndrome of PRE. However, there were substantial subgroups with IGE and focal epilepsies. Most likely, reading-induced seizures occur as an abnormal response to extero- or proprioceptive input into an upregulated cortical network subserving reading. Most recent researchers consider EwRIS a system epilepsy.


Assuntos
Epilepsias Parciais , Epilepsia Tipo Ausência , Epilepsia Generalizada , Epilepsia Reflexa , Mioclonia , Adolescente , Adulto , Criança , Humanos , Masculino , Adulto Jovem , Eletroencefalografia , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Generalizada/diagnóstico , Imunoglobulina E , Mioclonia/diagnóstico , Convulsões/diagnóstico
18.
Clin Pharmacol Ther ; 114(2): 459-469, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37316457

RESUMO

Ethosuximide was identified as the optimal option for new-onset childhood absence epilepsy (CAE) in a randomized, two-phase dose escalation comparative effectiveness trial of ethosuximide, lamotrigine, and valproic acid. However, 47% of ethosuximide initial monotherapy participants experienced short-term treatment failure. This study aimed to characterize the initial monotherapy ethosuximide exposure-response relationship and to propose model-informed precision dosing guidance. Dose titration occurred over a 16-20-week period until patients experienced seizure freedom or intolerable side effects. Subjects with initial monotherapy failure were randomized to one of the other two medications and dose escalation was repeated. A population pharmacokinetic model was created using plasma concentration data (n = 1,320), collected at 4-week intervals from 211 unique participants during both the initial and second monotherapy phases. A logistic regression analysis was performed on the initial monotherapy cohort (n = 103) with complete exposure-response data. Eighty-four participants achieved seizure freedom with a wide range of ethosuximide area under the curves (AUC) ranging from 420 to 2,420 µg·h/mL. AUC exposure estimates for achieving a 50% and 75% probability of seizure freedom were 1,027 and 1,489 µg·h/mL, respectively, whereas the corresponding cumulative frequency of intolerable adverse events was 11% and 16%. Monte Carlo Simulation indicated a daily dose of 40 and 55 mg/kg to achieve 50% and 75% probability of seizure freedom in the overall population, respectively. We identified the need for adjusted mg/kg dosing in different body weight cohorts. This ethosuximide proposed model-informed precision dosing guidance to achieve seizure freedom carries promise to optimize initial monotherapy success for patients with CAE.


Assuntos
Epilepsia Tipo Ausência , Etossuximida , Humanos , Etossuximida/efeitos adversos , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/induzido quimicamente , Anticonvulsivantes/efeitos adversos , Ácido Valproico/efeitos adversos , Convulsões/tratamento farmacológico , Convulsões/induzido quimicamente
19.
Epilepsia ; 64(9): 2330-2341, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37329145

RESUMO

OBJECTIVE: The objective of this study was to determine areas of consensus among an international panel of experts for the clinical presentation and diagnosis of epilepsy with eyelid myoclonia (EEM; formerly known as Jeavons syndrome) to improve a timely diagnosis. METHODS: An international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This committee summarized the current literature and identified an international panel of experts (comprising 25 physicians and five patients/caregivers). This international expert panel participated in a modified Delphi process, including three rounds of surveys to determine areas of consensus for the diagnosis of EEM. RESULTS: There was a strong consensus that EEM is a female predominant generalized epilepsy syndrome with onset between 3 and 12 years of age and that eyelid myoclonia must be present to make the diagnosis. There was a strong consensus that eyelid myoclonia may go unrecognized for years prior to an epilepsy diagnosis. There was consensus that generalized tonic-clonic and absence seizures are typically or occasionally seen in patients. There was a consensus that atonic or focal seizures should lead to the consideration of reclassification or alternate diagnoses. There was a strong consensus that electroencephalography is required, whereas magnetic resonance imaging is not required for diagnosis. There was a strong consensus to perform genetic testing (either epilepsy gene panel or whole exome sequencing) when one or a combination of factors was present: family history of epilepsy, intellectual disability, or drug-resistant epilepsy. SIGNIFICANCE: This international expert panel identified multiple areas of consensus regarding the presentation and evaluation of EEM. These areas of consensus may be used to inform clinical practice to shorten the time to the appropriate diagnosis.


Assuntos
Epilepsia Tipo Ausência , Epilepsia Generalizada , Mioclonia , Humanos , Feminino , Consenso , Epilepsia Generalizada/diagnóstico , Mioclonia/diagnóstico , Convulsões , Epilepsia Tipo Ausência/diagnóstico , Eletroencefalografia , Pálpebras
20.
Clin Neurophysiol ; 152: 34-42, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37269771

RESUMO

OBJECTIVE: Absences affect visual attention and eye movements variably. Here, we explore whether the dissimilarity of these symptoms during absences is reflected in differences in electroencephalographic (EEG) features, functional connectivity, and activation of the frontal eye field. METHODS: Pediatric patients with absences performed a computerized choice reaction time task, with simultaneous recording of EEG and eye-tracking. We quantified visual attention and eye movements with reaction times, response correctness, and EEG features. Finally, we studied brain networks involved in the generation and propagation of seizures. RESULTS: Ten pediatric patients had absences during the measurement. Five patients had preserved eye movements (preserved group) and five patients showed disrupted eye movements (unpreserved group) during seizures. Source reconstruction showed a stronger involvement of the right frontal eye field during absences in the unpreserved group than in the preserved group (dipole fraction 1.02% and 0.34%, respectively, p < 0.05). Graph analysis revealed different connection fractions of specific channels. CONCLUSIONS: The impairment of visual attention varies among patients with absences and is associated with differences in EEG features, network activation, and involvement of the right frontal eye field. SIGNIFICANCE: Assessing the visual attention of patients with absences can be usefully employed in clinical practice for tailored advice to the individual patient.


Assuntos
Epilepsia Tipo Ausência , Humanos , Criança , Epilepsia Tipo Ausência/diagnóstico , Convulsões , Encéfalo , Lobo Frontal , Eletroencefalografia
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